Congenital adrenal hyperplasia in Alexandria, Egypt: a high prevalence justifying the need for a community-based newborn screening program.

Many neonatal screening programs for congenital adrenal hyperplasia (CAH) have been implemented worldwide to detect newborns at risk of salt wasting crisis and prevent incorrect gender assignment in females. The prevalence of CAH ranges between 1 : 23 344 [1] and 1 : 282 [2]. Table 1 illustrates the worldwide prevalence of CAH available in the literature till 2009. The present pilot study was done to determine the prevalence of CAH in Alexandria, Egypt by newborn screening for the possibility of its national implementation. Blood drops from heel sample were collected on a filter paper card on days 5–7 after birth, dried and sent to a central ministry of health laboratory (at Ras Al-Teen hospital) in Alexandria, Egypt for the newborn screening of congenital hypothyroidism. The left-over cards with spare dried blood spots were stored at room temperature then transported to Suzanne Mubarak Regional a total of 7254 newborns were screened by time-resolved fluoroimmunoassay method using the Auto DELFIA neonatal 17OHP kit and the automatic immunoassay system (PerkinELMER Life Sciences, previously Wallac Oy, Turku, Finland). A 17OHP cutoff level of >30 nmol/L blood for full-term infants was used to indicate patients at risk of having CAH. The abnormal results were assayed in duplicate then reported to the same central ministry of health hospital where suspected newborns were traced and it was decided whether the baby should have a second heel puncture or has to be referred to a pediatric endocrinologist immediately. The diagnosis of CAH was confirmed by an elevated serum 17OHP. Seven cases (two males and five females) were initially diagnosed as positive. Only one recall was TABLE 1 Nationwide prevalence of CAH in the literature Country/Region (reference) Publication year Number of cases/ screened population